Zobrazeno 1 - 10
of 78
pro vyhledávání: '"Ioannis Dragatsis"'
Autor:
Aviel Even, Giovanni Morelli, Silvia Turchetto, Michal Shilian, Romain Le Bail, Sophie Laguesse, Nathalie Krusy, Ariel Brisker, Alexander Brandis, Shani Inbar, Alain Chariot, Frédéric Saudou, Paula Dietrich, Ioannis Dragatsis, Bert Brone, Loïc Broix, Jean-Michel Rigo, Miguel Weil, Laurent Nguyen
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-14 (2021)
Microtubule tracks are important for the transport of molecules within axons. Here, the authors show that ATAT1, the enzyme responsible for acetylating a-tubulin, receives acetyl groups from ATP citrate lyase whose stability is regulated by Elongator
Externí odkaz:
https://doaj.org/article/56060abcde1a4c4f802c73b700424575
Autor:
Paula Dietrich, Ioannis Dragatsis
Publikováno v:
Neural Regeneration Research, Vol 18, Iss 3, Pp 523-524 (2023)
Externí odkaz:
https://doaj.org/article/f1ec7373debf4d359ec6a76ce19fbf3e
Autor:
Paula Dietrich, Shanta Alli, Megan K. Mulligan, Rachel Cox, David G. Ashbrook, Robert W. Williams, Ioannis Dragatsis
Publikováno v:
Neurobiology of Disease, Vol 162, Iss , Pp 105581- (2022)
Mitochondria dysfunction occurs in the aging brain as well as in several neurodegenerative disorders and predisposes neuronal cells to enhanced sensitivity to neurotoxins. 3-nitropropionic acid (3-NP) is a naturally occurring plant and fungal neuroto
Externí odkaz:
https://doaj.org/article/d56f2e4c0c394707995eb84a7cac2bbc
Autor:
Caley J. Burrus, Spencer U. McKinstry, Namsoo Kim, M. Ilcim Ozlu, Aditya V. Santoki, Francia Y. Fang, Annie Ma, Yonca B. Karadeniz, Atesh K. Worthington, Ioannis Dragatsis, Scott Zeitlin, Henry H. Yin, Cagla Eroglu
Publikováno v:
Cell Reports, Vol 30, Iss 3, Pp 642-657.e6 (2020)
Summary: Huntington’s disease (HD) is caused by an autosomal dominant polyglutamine expansion mutation of Huntingtin (HTT). HD patients suffer from progressive motor, cognitive, and psychiatric impairments, along with significant degeneration of th
Externí odkaz:
https://doaj.org/article/6f46fe39fbe14269bc81dcb22d7ced0a
Autor:
Aviel Even, Giovanni Morelli, Silvia Turchetto, Michal Shilian, Romain Le Bail, Sophie Laguesse, Nathalie Krusy, Ariel Brisker, Alexander Brandis, Shani Inbar, Alain Chariot, Frédéric Saudou, Paula Dietrich, Ioannis Dragatsis, Bert Brone, Loïc Broix, Jean-Michel Rigo, Miguel Weil, Laurent Nguyen
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-1 (2021)
Externí odkaz:
https://doaj.org/article/79e79303396a442f8f0694398022f331
Autor:
Jianfeng Xiao, Satya R. Vemula, Yi Xue, Mohammad M. Khan, Francesca A. Carlisle, Adrian J. Waite, Derek J. Blake, Ioannis Dragatsis, Yu Zhao, Mark S. LeDoux
Publikováno v:
Neurobiology of Disease, Vol 98, Iss , Pp 52-65 (2017)
Loss-of-function mutations in SGCE, which encodes ε-sarcoglycan (ε-SG), cause myoclonus-dystonia syndrome (OMIM159900, DYT11). A “major” ε-SG protein derived from CCDS5637.1 (NM_003919.2) and a “brain-specific” protein, that includes seque
Externí odkaz:
https://doaj.org/article/4a2699bf291c44c08161fe58f410f8fd
Publikováno v:
PLoS Genetics, Vol 13, Iss 7, p e1006846 (2017)
Huntington's Disease (HD) is an autosomal dominant progressive neurodegenerative disorder characterized by cognitive, behavioral and motor dysfunctions. HD is caused by a CAG repeat expansion in exon 1 of the HD gene that is translated into an expand
Externí odkaz:
https://doaj.org/article/d89dc24de690467bbc8235b42003f51b
Autor:
David Cheishvili, Paula Dietrich, Channa Maayan, Aviel Even, Miguel Weil, Ioannis Dragatsis, Aharon Razin
Publikováno v:
PLoS ONE, Vol 9, Iss 4, p e94612 (2014)
The splice site mutation in the IKBKAP gene coding for IKAP protein leads to the tissue-specific skipping of exon 20, with concomitant reduction in IKAP protein production. This causes the neurodevelopmental, autosomal-recessive genetic disorder - Fa
Externí odkaz:
https://doaj.org/article/b07c0396ad8a461a8a1bf21f6572bd6d
Publikováno v:
PLoS ONE, Vol 6, Iss 10, p e27015 (2011)
Familial Dysautonomia (FD) is an autosomal recessive disorder that affects 1/3,600 live births in the Ashkenazi Jewish population, and leads to death before the age of 40. The disease is characterized by abnormal development and progressive degenerat
Externí odkaz:
https://doaj.org/article/033c0522bfc14bdda64849f6f39e5d50
Autor:
Paula Dietrich, Ioannis Dragatsis
Publikováno v:
Genetics and Molecular Biology, Vol 39, Iss 4, Pp 497-514
Abstract Hereditary Sensory and Autonomic Neuropathies (HSANs) compose a heterogeneous group of genetic disorders characterized by sensory and autonomic dysfunctions. Familial Dysautonomia (FD), also known as HSAN III, is an autosomal recessive disor
Externí odkaz:
https://doaj.org/article/40acf75ecafe4cc8a2b01fec0349347a